The important role of data science in accelerating advancements in care for rare diseases

One of the biggest challenges in rare diseases is getting an accurate diagnosis. Many families go through years of uncertainty before they find the right answers. By embracing developments in data science and new technologies, we hope to reduce the diagnostic odyssey (the long and difficult journey that many rare disease patients undertake to receive an accurate diagnosis and treatment) and give families the answers they need sooner.

Every child is unique, and rare diseases often don't have a 'one-size-fits-all' solution, but data science is helping us develop more targeted treatments.

Predictive analytics can allow us to see how a child might respond to a particular medication, helping us choose the safest and most effective option. This means our patients could receive treatments tailored just for them.

Our Digital Research, Informatics and Virtual Environments (DRIVE) unit is at the heart of this important work. As a leading centre for paediatric healthcare data innovation, DRIVE aims to harness the power of data and cutting-edge technology to enhance patient care, as well as to better support staff.

We know that by working together we can achieve so much more, and working with our industry partners such as Arcturis, Aridhia and Roche UK continues to play a significant part in our journey.

• Our electronic patient health records allow us to compare cases across up to 25 years of GOSH records and learn from previous experiences, making it easier to recognise rare conditions.
• By pioneering the use of AI, we are building tools that could further our understanding of rare diseases. For example, tools that can securely scan through reports to pull out important genomic data and combine this with other important clinical information for a variety of diseases.
• We are also developing multiple predictive Machine Learning tools to anticipate the needs of patient groups.

Our secure Data Research Environment (DRE), is a protected digital space designed to allow researchers to access and analyse sensitive data safely and responsibly.

The GOSH DRE is vital to our mission as it enables:

• Protection of patient privacy: All data is de-identified and stored securely, ensuring no unauthorised access.
• Safe research collaboration: Researchers across multiple hospitals and universities can work together on projects without downloading or transferring sensitive data.
• Powerful computing tools: A DRE provides access to advanced analytics, AI, and machine learning tools to accelerate discoveries.
• Faster and better insights: By providing a structured and compliant way to analyse data, we can turn information into real-world health improvements more efficiently.

We recently hit a big milestone, with 400 research projects being supported by our secure DRE. This is not only a testament to how far we have come on our digital journey, but also a real achievement for collaborative working between clinicians, researchers and data teams.

Rare diseases are often difficult to study because they individually affect so few people, but by working collaboratively with hospitals and researchers as part of international networks such as through the PHEMS project, we are developing new ways to securely share data between different hospitals. This can help researchers to learn more about these conditions and share insights without data ever being shared.

28 February is Rare Disease Day, a global opportunity to raise awareness for people living with rare disease and celebrate advancements in care. You can find out more about rare diseases and how we are supporting Rare Disease Day 2025 https://www.gosh.nhs.uk/news/the-countdown-to-rare-disease-day-2025-is-on/